Forsah Sabastain F, Kankeu Tonpouwo Gauvain, Ugwendum Derek, Changoh Marvel, Arrey Agbor Divine Besong, Razak Bibi S, Muego Justin, Diaz Keith
Internal Medicine, Richmond University Medical Center, Staten Island, USA.
Pulmonary and Critical Care, Richmond University Medical Center, Staten Island, USA.
Cureus. 2024 Jul 17;16(7):e64723. doi: 10.7759/cureus.64723. eCollection 2024 Jul.
Lymphangioleiomyomatosis (LAM) is a rare cystic disease that occurs due to the abnormal proliferation of smooth muscle-like cells. It primarily affects the lungs but can also have extrapulmonary manifestations such as lymphangioleiomyoma and angiomyolipomas. It is more common in young women of childbearing age, with female sex hormones contributing to the disease course. LAM can develop either through sporadic mutations or through genetic inheritance of the tuberous sclerosis complex (TSC) genes. TSC, LAM, and endometrial cancer are associated with mTOR pathway activation, which can explain why these diseases can co-exist, although the co-existence of LAM and endometrial cancer in the same patient is very rare. Due to the cystic nature of LAM, pneumothorax most often occurs at least once during the course of the disease, and most times, it is the first manifestation observed in LAM. These patients are also at high risk for recurrent pneumothorax, and when that occurs, pleurodesis is indicated. Unfortunately, pleurodesis still does not preclude a pneumothorax from occurring. We present the case of a female patient with LAM and endometrial cancer who was found to have an incidental spontaneous hydropneumothorax after pleurodesis. Patients with LAM should be closely monitored for the possible development of other mTOR-associated diseases. Moreover, when performing pleurodesis for recurrent pneumothorax in very high-risk patients, the procedure with the lowest recurrence rate should be utilized.
淋巴管平滑肌瘤病（LAM）是一种罕见的囊性疾病，由平滑肌样细胞异常增殖引起。它主要影响肺部，但也可能有肺外表现，如淋巴管平滑肌瘤和血管平滑肌脂肪瘤。该病在育龄年轻女性中更为常见，女性性激素在疾病发展过程中起作用。LAM可通过散发性突变或结节性硬化复合体（TSC）基因的遗传而发生。TSC、LAM和子宫内膜癌都与mTOR通路激活有关，这可以解释为什么这些疾病会同时存在，尽管同一患者中LAM和子宫内膜癌同时存在的情况非常罕见。由于LAM的囊性本质，气胸在疾病过程中最常至少发生一次，而且大多数情况下，它是LAM中观察到的首发表现。这些患者发生复发性气胸的风险也很高，当发生复发性气胸时，需要进行胸膜固定术。不幸的是，胸膜固定术并不能防止气胸的发生。我们报告了一例患有LAM和子宫内膜癌的女性患者，该患者在胸膜固定术后意外发生了自发性液气胸。LAM患者应密切监测是否可能发生其他与mTOR相关的疾病。此外，在为极高风险患者的复发性气胸进行胸膜固定术时，应采用复发率最低的手术方法。
